Associated Papers
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.
Cheerie D et al.
American Journal of Human Genetics, 2025
40139194 (PubMed )
Supplement: mmc2.pdf
Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene.
Essawi ML et al.
Journal, Genetic Engineering & Biotechnology, 2021
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